Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down syndrome. A discrete choice experiment was used to obtain participants' stated preference for prenatal tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and type of information. Pregnant women and health professionals were recruited from Canada, Denmark, Iceland, Israel, Italy, the Netherlands, Portugal, Singapore, and the United Kingdom. A total of 2666 women's and 1245 health professionals' questionnaires were included in the analysis. Differences in preferences were seen between women and health professionals within and between countries. Overall, women placed greater emphasis on test safety and comprehensive information than health professionals, who emphasised accuracy and early testing. Differences between women's and health professionals' preferences are marked between countries. Varied approaches to implementation and service delivery are therefore needed and individual countries should develop guidelines appropriate for their own social and screening contexts. INTRODUCTIONMany countries have established prenatal screening programmes for Down syndrome (DS), where an initial screening test is followed by the offer of an invasive diagnostic test for women with a 'high risk' result to allow definitive diagnosis. Non-invasive prenatal testing (NIPT), which analyses cell-free DNA in maternal plasma, is rapidly transforming prenatal testing for DS worldwide. 1 NIPT can be used from 10 weeks in pregnancy to screen for DS with high sensitivity (99.3%) and specificity (99.8%) and can detect other common chromosomal aneuploidies (Trisomy 18, Trisomy 13, and Monosomy X). 2,3 NIPT allows screening for these conditions with much greater specificity than traditional DS screening (DSS) 4 and thereby significantly reduces the need for invasive testing (chorionic villus sampling or amniocentesis) with the associated small miscarriage risk. 5

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“…18 The DCE design follows the approach of Street and Burgess. 16 Two attributes had three levels and two attributes had two levels.…”

Section: Attribute Levelsmentioning

confidence: 99%

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

et al. 2015

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“…3 Each of these invasive procedures carries a risk of approximately 0.5-1% of miscarriage. 4 As the discovery of cell-free fetal DNA in maternal blood is over 15 years ago, 5 the analysis of cell-free fetal DNA has been implemented for specific clinical applications such as fetal sex-determination to support the prenatal diagnosis of X-linked disorders 6 and fetal RhD status. 7 Research on the use of non-invasive prenatal diagnosis (NIPD) for the diagnosis of single gene disorders has to implementation for some conditions 8 and there is considerable support by prospective parents and health professionals for further development in this area.…”

Section: Introductionmentioning

confidence: 99%

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders

2014

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Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy. Data were collected via focus groups or interviews. Participants were aware of the potential for such tests to be viewed as routine and suggested that obtaining written consent and allowing time for consideration is needed to facilitate autonomous choice and informed consent. All participants felt that mothers should be able to request such tests, but fathers who declined carrier testing should be made aware that fetal test results may reveal their status. We suggest that a written record of consent for non-invasive prenatal diagnosis should be used as a standard to help reinforce the serious nature of the test results. Where the father's carrier status could be revealed through fetal testing, he should be made aware of this before the results are available. Health professionals should discuss with the pregnant woman the best way to manage unsought information about the father's carrier status to minimise family disruption.

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“…Osnovna metoda prenatalne diagnostike je biopsija horionskih resic (glej poglavje 2.5). Možno jo je narediti med 10. in 14. tednom gestacije (260)(261)(262)(263), vendar se ne priporoča pred 11. tednom gestacije zaradi večjega tveganja za nepravilnosti pri plodu (264). Amniocentezo opravljamo po 16. tednu nosečnosti kadarkoli (253,261,265).…”

Section: Nosečnost In Porodunclassified

Nacionalna priporočila za obravnavo bolnikov s hemofilijo

et al. 2017

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The document presents recommendations for the comprehensive treatment of patients with haemophilia in Slovenia. It enables health workers at all three levels of health care to become well-acquainted with all the possible aspects of treatment based on the best practices of major centres worldwide, and on the studies and experience of health professionals at the National Haemophilia Centre, University Medical Center Ljubljana. The document contains definitions, treatment algorithms and lists of medications with their characteristics and appropriate dosages. It specifically defines indications for the exclusive competence of the tertiary level in Ljubljana due to the actual availability of teams and laboratory options. It also contains an extensive list of the literature on haemophilia.

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Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

Cited by 358 publications

References 99 publications

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders

Nacionalna priporočila za obravnavo bolnikov s hemofilijo

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